ClinVar Miner

Variants from Institute of Human Genetics, Klinikum rechts der Isar with conflicting interpretations

Location: Germany — Primary collection method: clinical testing
Minimum review status of the submission from Institute of Human Genetics, Klinikum rechts der Isar: Collection method of the submission from Institute of Human Genetics, Klinikum rechts der Isar:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
916 308 30 139 0 1 59 210

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All submitters
Institute of Human Genetics, Klinikum rechts der Isar pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 28 114 37 1 1 1
likely pathogenic 25 2 20 1 1 0

Submitter to submitter summary #

Total submitters: 77
Download table as spreadsheet
Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
Invitae 0 97 0 20 0 0 22 42
GeneReviews 0 46 26 2 0 0 0 28
Counsyl 0 14 0 14 0 0 5 19
SIB Swiss Institute of Bioinformatics 0 9 0 11 0 0 2 13
OMIM 0 258 0 10 0 1 0 11
Institute of Human Genetics, University of Leipzig Medical Center 0 34 0 7 0 0 4 11
Mendelics 0 28 0 6 0 0 4 10
Illumina Clinical Services Laboratory,Illumina 0 18 0 3 0 0 7 10
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 13 0 3 0 0 4 7
Baylor Genetics 0 65 0 3 0 0 3 6
Genetic Services Laboratory, University of Chicago 0 21 0 6 0 0 0 6
Fulgent Genetics,Fulgent Genetics 0 23 0 6 0 0 0 6
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 18 0 4 0 0 2 6
Broad Institute Rare Disease Group, Broad Institute 0 8 0 3 0 0 2 5
Centogene AG - the Rare Disease Company 0 11 0 4 0 0 0 4
Integrated Genetics/Laboratory Corporation of America 0 38 0 4 0 0 0 4
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 2 2 0 0 0 4
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 0 0 4 0 0 0 4
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 3 0 3 0 0 1 4
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 0 2 0 0 1 3
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 3 0 0 0 3
Natera, Inc. 0 20 0 2 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 8 0 1 0 0 1 2
Hadassah Hebrew University Medical Center 0 0 0 2 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 4 0 2 0 0 0 2
Center for Human Disease Modeling,Duke University Medical Center 0 1 0 2 0 0 0 2
Undiagnosed Diseases Network,NIH 0 5 0 1 0 0 1 2
Research and Development, ARUP Laboratories 0 11 2 0 0 0 0 2
Fundacion Hipercolesterolemia Familiar 0 0 0 1 0 0 1 2
Iberoamerican FH Network 0 0 0 1 0 0 1 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 7 0 2 0 0 0 2
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 0 0 0 0 2 2
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 4 0 1 0 0 0 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 1 0 1 0 0 0 1
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 4 0 1 0 0 0 1
Institute of Human Genetics,Cologne University 0 0 0 1 0 0 0 1
Institute of Medical Molecular Genetics, University of Zurich 0 0 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 1 0 1 0 0 0 1
Blueprint Genetics 0 1 0 1 0 0 0 1
LDLR-LOVD, British Heart Foundation 0 1 0 1 0 0 0 1
RettBASE 0 6 0 0 0 0 1 1
Center for Genetic Medicine Research,Children's National Medical Center 0 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 3 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 6 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 13 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 5 0 0 0 0 1 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 3 0 1 0 0 0 1
Neurogenetics Laboratory,GH Pitie Salpetriere APHP 0 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 0 0 0 0 1 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 4 0 1 0 0 0 1
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 1 0 1 0 0 0 1
Robarts Research Institute,Western University 0 0 0 1 0 0 0 1
Neurogenetics Laboratory - MEYER,AOU Meyer 0 1 0 1 0 0 0 1
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 1 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 15 0 1 0 0 0 1
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 0 0 0 1 0 0 0 1
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 1 0 1 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 6 0 1 0 0 0 1
Inherited Neuropathy Consortium 0 0 0 0 0 0 1 1
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 1 0 0 0 1
Tehran Medical Genetics Laboratory 0 0 0 1 0 0 0 1
Kids Research, The Children's Hospital at Westmead 0 2 0 1 0 0 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 1 0 1 0 0 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 0 1 0 0 0 0 1 1
Johns Hopkins Genomics, Johns Hopkins University 0 4 0 1 0 0 0 1
Wessex Regional Genetics Laboratory,Salisbury District Hospital 0 1 0 1 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 0 1 0 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 6 0 1 0 0 0 1
Myriad Women's Health, Inc. 0 25 0 1 0 0 0 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 0 0 1 0 0 0 1
New York Genome Center 0 1 0 0 0 0 1 1
Molecular Biology Laboratory, Fundació Puigvert 0 3 0 1 0 0 0 1
Sydney Genome Diagnostics,Children's Hospital Westmead 0 4 0 1 0 0 0 1
Laboratory of Molecular Genetics,Children's Memorial Health Institute 0 1 0 1 0 0 0 1
Laboratory for Molecular Genetic Diagnostic of Neurological Diseases,University of Belgrade, School of Medicine 0 1 0 1 0 0 0 1
Paris Brain Institute,Inserm - ICM 0 9 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 210
Download table as spreadsheet
HGVS dbSNP
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234
NM_000021.4(PSEN1):c.551A>G (p.Glu184Gly) rs1566641934
NM_000021.4(PSEN1):c.697A>G (p.Met233Val) rs63751287
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936
NM_000051.3(ATM):c.1235+3A>G rs1417190414
NM_000051.3(ATM):c.5177+5G>A rs759373136
NM_000051.3(ATM):c.5573G>A (p.Trp1858Ter) rs879254076
NM_000051.3(ATM):c.6154G>A (p.Glu2052Lys) rs202206540
NM_000051.3(ATM):c.6898T>G (p.Trp2300Gly) rs1565520641
NM_000051.3(ATM):c.8147T>C (p.Val2716Ala) rs587782652
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly) rs137853284
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636
NM_000086.2(CLN3):c.883G>A (p.Glu295Lys) rs121434286
NM_000091.4(COL4A3):c.2417dup (p.Gly807fs) rs1440033157
NM_000091.4(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125
NM_000111.2(SLC26A3):c.386C>T (p.Pro129Leu) rs386833480
NM_000113.3(TOR1A):c.907_909delGAG (p.Glu303del) rs80358233
NM_000118.3(ENG):c.659T>C (p.Ile220Thr) rs1588582695
NM_000118.3(ENG):c.991G>A (p.Gly331Ser) rs1060501410
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000143.3(FH):c.698G>T (p.Arg233Leu) rs121913123
NM_000147.4(FUCA1):c.422G>T (p.Gly141Val) rs753232669
NM_000157.3(GBA):c.1448T>C rs421016
NM_000159.4(GCDH):c.1093G>A (p.Glu365Lys) rs121434370
NM_000170.2(GLDC):c.1654A>G (p.Met552Val) rs386833529
NM_000180.4(GUCY2D):c.2513G>A (p.Arg838His) rs61750173
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His) rs199473011
NM_000255.4(MMUT):c.1126_1127del (p.Ala376fs) rs1554159950
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226
NM_000274.3(OAT):c.772-1G>A rs770390524
NM_000280.4(PAX6):c.622C>T (p.Arg208Trp) rs757259413
NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu) rs137853254
NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg) rs1272572107
NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln) rs527236149
NM_000360.4(TH):c.605G>A (p.Arg202His) rs80338892
NM_000391.4(TPP1):c.509-1G>C rs56144125
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp) rs104894161
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg) rs104893836
NM_000444.6(PHEX):c.1406C>A (p.Ala469Glu) rs375593493
NM_000444.6(PHEX):c.1586+3_1586+6del rs886042234
NM_000444.6(PHEX):c.1735G>A (p.Gly579Arg) rs875989883
NM_000444.6(PHEX):c.591A>G (p.Gln197=) rs1556020818
NM_000475.5(NR0B1):c.1141C>T (p.Leu381Phe) rs386134263
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg) rs74315471
NM_000487.6(ARSA):c.917C>T (p.Thr306Met) rs199476359
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000540.2(RYR1):c.7358T>C (p.Ile2453Thr) rs118192123
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter) rs113994129
NM_001008389.3(UMOD):c.317G>A (p.Cys106Tyr) rs398123697
NM_001029896.2(WDR45):c.516+1_516+3del rs1557084113
NM_001031726.3(C19orf12):c.238C>T (p.Gln80Ter) rs1064797235
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His) rs886041246
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys) rs1131692231
NM_001042492.3(NF1):c.3831C>T (p.Gly1277=) rs1597722611
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val) rs2808001
NM_001080472.4(FITM2):c.694G>A (p.Gly232Arg) rs765281145
NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser) rs201842633
NM_001083962.2(TCF4):c.1739G>A (p.Arg580Gln) rs121909121
NM_001098511.2(KIF2A):c.959C>T (p.Thr320Ile) rs1554042050
NM_001101.5(ACTB):c.625G>A (p.Val209Met) rs587779777
NM_001105537.4(ZNF142):c.1292del (p.Cys431fs) rs1559296368
NM_001105537.4(ZNF142):c.3175C>T (p.Arg1059Ter) rs546151500
NM_001105537.4(ZNF142):c.817_818del (p.Lys273fs) rs1447313633
NM_001110792.2(MECP2):c.1A>G (p.Met1Val) rs587783132
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689
NM_001112741.1(KCNC1):c.1262C>T (p.Ala421Val) rs1554991378
NM_001128849.2(SMARCA4):c.3557C>T (p.Ala1186Val) rs1600388982
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp) rs746243052
NM_001134407.3(GRIN2A):c.2450T>C (p.Met817Thr) rs1064796608
NM_001144869.3(LIPT2):c.314T>G (p.Leu105Arg) rs1190703859
NM_001144869.3(LIPT2):c.377T>G (p.Leu126Arg) rs753904927
NM_001160036.2(RHOBTB2):c.1448G>A (p.Arg483His) rs1554504663
NM_001160036.2(RHOBTB2):c.1519C>T (p.Arg507Cys) rs1563292586
NM_001166114.2(PNPLA6):c.1853C>T (p.Ala618Val) rs568356836
NM_001166114.2(PNPLA6):c.2924G>A (p.Gly975Glu) rs1599305317
NM_001197104.1(KMT2A):c.3301C>T (p.Arg1101Ter) rs886041856
NM_001271208.2(NEB):c.24314_24317dup (p.Leu8106fs) rs781667543
NM_001271208.2(NEB):c.9619-2A>G rs375145370
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp) rs398123061
NM_001278716.2(FBXL4):c.1703G>C (p.Gly568Ala) rs398123060
NM_001278716.2(FBXL4):c.1772A>C (p.Asp591Ala) rs747618415
NM_001282225.2(ADA2):c.139G>T (p.Gly47Trp) rs202134424
NM_001303256.3(MORC2):c.1181A>G (p.Tyr394Cys) rs1555938796
NM_001322934.2(NFKB2):c.2600C>T (p.Ala867Val) rs727502788
NM_001323289.2(CDKL5):c.554+1G>A rs1555950083
NM_001360.2(DHCR7):c.470T>C (p.Leu157Pro) rs753960624
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217
NM_001377265.1(MAPT):c.2014AAG[1] (p.Lys673del) rs63750688
NM_001457.4(FLNB):c.1945C>T (p.Arg649Ter) rs80356517
NM_001605.2(AARS1):c.2738G>A (p.Gly913Asp) rs369774476
NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys) rs864309721
NM_001927.4(DES):c.1216C>T (p.Arg406Trp) rs121913003
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) rs752746786
NM_002437.5(MPV17):c.376-9T>G rs368900406
NM_002591.4(PCK1):c.925G>A (p.Gly309Arg) rs201186470
NM_002641.3(PIGA):c.355C>T (p.Arg119Trp) rs587777396
NM_002693.3(POLG):c.2243G>C rs113994097
NM_002715.4(PPP2CA):c.263A>G (p.Asp88Gly) rs1561737008
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003172.4(SURF1):c.752-1G>C rs1391748504
NM_003482.3(KMT2D):c.5627_5630del (p.Asp1876fs) rs1555193738
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln) rs149712244
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg) rs375032130
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val) rs150321966
NM_004341.5(CAD):c.1843-3C>T rs1057519262
NM_004369.4(COL6A3):c.7447A>G rs139260335
NM_004646.3(NPHS1):c.515_517del (p.Thr172del) rs386833947
NM_004870.4(MPDU1):c.218G>A (p.Gly73Glu) rs104894586
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys) rs1555889130
NM_005591.3(MRE11):c.77T>C (p.Met26Thr) rs372068015
NM_005591.4(MRE11):c.1112dup (p.Gly372fs) rs1591681273
NM_005591.4(MRE11):c.820_821del (p.Leu274fs) rs1565228898
NM_005629.4(SLC6A8):c.1661C>T (p.Pro554Leu) rs397515559
NM_005910.5(MAPT):c.1008G>C (p.Gln336His) rs1598408073
NM_006158.4(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu) rs751459058
NM_006772.3(SYNGAP1):c.509G>A (p.Arg170Gln) rs1057519546
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
NM_007375.3(TARDBP):c.1147A>G (p.Ile383Val) rs80356740
NM_012123.4(MTO1):c.1325G>A (p.Arg442Gln) rs765548847
NM_012123.4(MTO1):c.1430G>A (p.Arg477His) rs201544686
NM_012123.4(MTO1):c.1450C>T (p.Arg484Trp) rs748152539
NM_012123.4(MTO1):c.938G>A (p.Arg313Gln) rs371179032
NM_014225.6(PPP2R1A):c.544C>T (p.Arg182Trp) rs786205227
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_014297.5(ETHE1):c.586G>A (p.Asp196Asn) rs763799125
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn) rs1160357920
NM_014363.6(SACS):c.8793del (p.Lys2931fs) rs767871841
NM_014625.3(NPHS2):c.156del (p.Thr53fs) rs1272948499
NM_014625.3(NPHS2):c.413G>A (p.Arg138Gln) rs74315342
NM_014625.3(NPHS2):c.467dup (p.Leu156fs) rs528833893
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) rs199826737
NM_014727.2(KMT2B):c.1633C>T (p.Arg545Ter) rs1057519279
NM_014946.4(SPAST):c.1360G>A rs1553318230
NM_014946.4(SPAST):c.1496G>A rs878854991
NM_014946.4(SPAST):c.1553T>C (p.Leu518Pro) rs1553319290
NM_015046.7(SETX):c.5825T>C (p.Ile1942Thr) rs773379832
NM_015133.5(MAPK8IP3):c.1732C>T (p.Arg578Cys) rs1567203083
NM_015133.5(MAPK8IP3):c.3436C>T (p.Arg1146Cys) rs1567214097
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_015697.8(COQ2):c.590G>A (p.Arg197His) rs121918231
NM_015836.3(WARS2):c.37T>G (p.Trp13Gly) rs139548132
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys) rs1163170578
NM_016035.5(COQ4):c.718C>T (p.Arg240Cys) rs143441644
NM_016038.4(SBDS):c.258+2T>C rs113993993
NM_017775.4(TTC19):c.554T>C (p.Leu185Pro) rs1187416161
NM_017780.4(CHD7):c.7285G>T (p.Glu2429Ter) rs773047607
NM_017825.3(ADPRS):c.1004T>G (p.Val335Gly) rs201735454
NM_017866.6(TMEM70):c.105dup (p.Val36fs) rs1411381518
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup) rs753112330
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His) rs119484086
NM_020320.5(RARS2):c.943C>T (p.Arg315Ter) rs199835443
NM_020442.6(VARS2):c.511C>T (p.Arg171Trp) rs139515727
NM_020745.4(AARS2):c.985C>T (p.Arg329Cys) rs200187887
NM_020964.3(EPG5):c.7447C>T (p.Arg2483Ter) rs863225064
NM_021625.4(TRPV4):c.935C>T (p.Ala312Val) rs751139506
NM_021629.4(GNB4):c.229G>A (p.Gly77Arg) rs1553851490
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser) rs863223921
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys) rs80356540
NM_021942.6(TRAPPC11):c.1287+5G>A rs397509418
NM_021971.2(GMPPB):c.1000G>A rs397509422
NM_022445.4(TPK1):c.501+4A>T rs375169579
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679
NM_024577.3(SH3TC2):c.3601C>T (p.Gln1201Ter) rs80338937
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) rs768443448
NM_024649.5(BBS1):c.831-3C>G rs113994179
NM_025137.4(SPG11):c.4307_4308del (p.Gln1436fs) rs312262759
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565
NM_031448.5(C19orf12):c.371dup (p.Met124fs) rs1568326754
NM_032856.5(WDR73):c.766dup (p.Arg256fs) rs727502864
NM_032861.4(SERAC1):c.91+6T>C rs1554265452
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142
NM_033380.3(COL4A5):c.3197G>A (p.Gly1066Asp) rs104886221
NM_033380.3(COL4A5):c.973G>A (p.Gly325Arg) rs104886088
NM_080916.3(DGUOK):c.155C>T (p.Ser52Phe) rs1204316787
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu) rs120074167
NM_138576.4(BCL11B):c.2421C>G (p.Asn807Lys) rs888230251
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944
NM_138694.4(PKHD1):c.4187C>T (p.Pro1396Leu) rs1581809655
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255
NM_138927.3(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_145207.3(SPATA5):c.983CAA[2] (p.Thr330del) rs796052243
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn) rs267606670
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del) rs752762669
NM_152778.3(MFSD8):c.881C>A (p.Thr294Lys) rs140948465
NM_153704.6(TMEM67):c.579del (p.Gly195fs) rs386834203
NM_153717.3(EVC):c.2894+3A>G rs1424976594
NM_153717.3(EVC):c.919T>C (p.Ser307Pro) rs121908426
NM_176787.5(PIGN):c.2284-1G>C rs760977825
NM_176787.5(PIGN):c.996T>G (p.Ile332Met) rs1060499763
NM_177550.4(SLC13A5):c.425C>T (p.Thr142Met) rs761917087
NM_177550.4(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569
NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp) rs864321624
NM_183357.2(ADCY5):c.1252C>T (p.Arg418Trp) rs864309483
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584
NM_213599.2(ANO5):c.191dupA rs137854521

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